Detalhe da pesquisa
1.
Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease.
Nature
; 534(7607): 383-6, 2016 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-27281217
2.
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.
Nucleic Acids Res
; 47(14): 7430-7443, 2019 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31147703
3.
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.
Ann Neurol
; 83(1): 115-130, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29283441
4.
Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations.
Hum Mol Genet
; 25(5): 903-15, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26721932
5.
Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.
Nucleic Acids Res
; 44(11): 5313-29, 2016 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27131788
6.
Corrigendum: Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease.
Nature
; 538(7626): 542, 2016 10 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27462813
7.
Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.
PLoS Genet
; 10(9): e1004620, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25232829
8.
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease.
Nature
; 465(7294): 82-5, 2010 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-20393463
9.
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.
Clin Sci (Lond)
; 128(12): 895-904, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25626417
10.
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.
Hum Mol Genet
; 21(1): 85-100, 2012 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21945886
11.
Mitochondrial DNA disease: new options for prevention.
Hum Mol Genet
; 20(R2): R168-74, 2011 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21852248
12.
Single Cell Analysis of Mitochondrial DNA Deletions.
Methods Mol Biol
; 2615: 443-463, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807808
13.
Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1.
J Neuromuscul Dis
; 10(6): 1111-1126, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37638448
14.
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
Brain
; 134(Pt 1): 183-95, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21169334
15.
Mitochondrial DNA mutations and human disease.
Biochim Biophys Acta
; 1797(2): 113-28, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19761752
16.
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
Brain
; 133(10): 2952-63, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20819849
17.
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.
Mol Genet Metab
; 100(4): 345-8, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20472482
18.
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
Brain
; 132(Pt 11): 3165-74, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19720722
19.
Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease.
Neurobiol Aging
; 63: 120-127, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29257976
20.
Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells.
Sci Rep
; 5: 9906, 2015 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25989140